Individual #00021130

Reference -
Gender F
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases OVCA
Owner name Despoina Kalfakakou


Phenotypes

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013953 70y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000180 DNA SEQ-NG-I 1 - 4 Despoina Kalfakakou



Variants

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
1 Parent #2 ?/? g.193117021A>G - CDC73_000008 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.754A>G r.(?) p.(Ile252Val)
7 Parent #2 ?/? g.55231402C>T - EGFR_000027 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1632-24C>T, NM_201282.1:c.1632-24C>T, NM_201284.1:c.1632-24C>T r.(=) p.(=)
16 Parent #2 -?/-? g.14041570T>C - ERCC4_000004 rs1800069 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2117T>C r.(?) p.(Ile706Thr)
19 Parent #2 ?/? g.45867247G>C - ERCC2_000026 rs757790912 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.946C>G, NM_001130867.1:c.874C>G r.(?) p.(Gln316Glu), p.(Gln292Glu)
Legend